ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000003.11) (NC_000003.12)
Evidence for haploinsufficiency phenotype
PubMed ID Description
17627390 2007 report of partial gene deletion of MITF (exons 3-10) identified by MLPA in a patient with WS1.
20127975 2010 review and update of mutations causing Waardenburg syndrome (WS), including two patients with WS2 and full MITF deletions and multiple truncating mutations.

Haploinsufficiency phenotype comments:

Heterozygous sequence-level MITF mutations are associated with Tietz albinism-deafness syndrome, Waardenburg syndrome type 2A and Waardenburg syndrome/ocular albinism, digenic. Functional studies suggest certain MITF mutations result in clinical phenotypes through haploinsufficiency. Incomplete penetrance has been noted with mutations in this gene.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity